TY - JOUR A2 - Bocci的，圭多AU - 陈，新余AU - 卜，清AU - 颜，学新AU - 李，叶非盟 - 渝黔AU - 郑，海萍AU - 赵，梁盟 - 曾国藩，演武AU -鲁，磊磊AU - 岚，董AU - 马，捷PY - 2020 DA - 2020年12月8日TI - 原发性和转移性肺腺癌的基因突变在中国病人SP - 6615575 VL - 2020 AB - 肺癌仍是主导导致癌症相关死亡全世界。肺癌，肺腺癌（LUAD）是最常见的亚型。多数患者LUAD会发展成转移，这限制了可用的治疗。有针对性的治疗和免疫治疗提供给那些晚期患者的选择。但他们也开始讨论了挑战，以确定合适的患者。本研究旨在揭示原发性和转移性LUAD及其可诉基因突变的景观。该研究纳入636例LUAD，其中85和551是来自病人有无转移，分别。新一代测序技术来检索他们的基因组信息。 Genomic mutations including short nucleotide variation, long variation, copy number variations, and fusions were called. The corresponding actionability was revealed. A comparison of genomic mutations and actionability between primary and metastatic LUAD was performed. In primary tumors, BRCA2 and FAT3 were significantly mutated in older patients; while in metastases, ALK and NOTCH2 were significantly mutated in younger patients. Primary tumors in male patients were significantly mutated in LRP1B and KRAS. Compared to primary tumors, metastases harbored less short nucleotide variations but more copy number variations and fusions. In metastases, chromosome 1 and chromosome 9 had less short nucleotide variations and more CNV than in primary tumors. Genomic variations of activated dendritic cells were more frequently mutated in metastases. EGFR genomic variations were negatively associated with PD-L1 and TMB. Patients with EGFR inhibitor treatment tend to have lower PD-L1 expression. The revealed discrepancy between primary and metastatic lung cancer could help guide the treatment strategies and the development of novel drugs. SN - 1687-8450 UR - https://doi.org/10.1155/2020/6615575 DO - 10.1155/2020/6615575 JF - Journal of Oncology PB - Hindawi KW - ER -